Oldest person with rare disease MSMD welcomes Cambridge-led NHS network on condition

The oldest person in the world known to be living with the rare genetic disease MSMD has welcomed a new Cambridge-led NHS network dedicated to sharing expertise on the condition.

Retired teacher Geraldine, 75, was one of the first in the world to be diagnosed with MSMD - mendelian susceptibility to mycobacterial disease - which affects the immune system and increases the risk of severe infections.

Her twin sister, Elizabeth, is thought to have had MSMD, but died aged 17 in 1966, before the condition was known about, of an infection, after five years in hospital.

People with MSMD can develop severe infections in different parts of their body and for Geraldine, it is usually in her spine. Aged 15, she spent a year in hospital in Edinburgh alongside her twin under the care of renowned physician Sir John Crofton.

In 1982, an infection made Geraldine's spine so weak that she had to be immobilised in a plaster bed and was unable to leave it for 22 months, while the infection was treated and her spine healed.

Dr Dinakantha Kumararatne, who made early clinical observations that helped to define MSMD, became involved in Geraldine's case in the early 1980s.

He joined Cambridge University Hospitals NHS Foundation Trust (CUH) in 2000 as a consultant immunologist and helped identify Geraldine's condition. He continues to be involved in her care.

On Rare Disease Day (28 February), it was announced that NHS England has established a new rare disease collaborative network (RDCN) for this complex condition that will help advance diagnosis and treatment, and improve alignment between paediatric and adult care. It will be led from Cambridge and also include Oxford and Newcastle.

Geraldine, who lives in Basingstoke but has been under the care of Addenbrooke’s since 2000, said: “I’m alive today because I’ve had access to specialist care. I was lucky, I knew the right people who understood what was wrong and were able to get me the treatments I needed. This network will help more people to get that vital support.”

Worldwide, about 150,000 people are estimated to have MSMD, but many are undiagnosed as its severity varies greatly between people.

It is caused by genetic changes that weaken the body’s defences against infections and patients are particularly at risk of infections caused by a group of bacteria called mycobacteria, which includes the bacteria that cause tuberculosis.

Without specialist care, people with MSMD can develop multiple, long-lasting infections that can become life-threatening and, in some cases, these are caused by species of bacteria that would usually be harmless to humans.

Geraldine and other people with MSMD typically depend on treatment involving long-term, carefully monitored use of antibiotics, but more severe cases can require bone marrow transplants.

RDCNs help bring people with rare diseases together with leading scientific and clinical expertise. They are designed to aid our understanding of rare diseases and improve care and support.

Dr Effrossyni Gkrania-Klotsas, a consultant in infectious diseases at Cambridge University Hospitals, who provides specialist care for people with MSMD, will take the lead on the new network

“Rare Disease Day is about creating visibility for people with rare diseases. By encouraging collaboration and raising awareness in the UK and beyond, this network will make a huge difference for people with MSMD,” she said. “By working together we hope that many more people can be diagnosed and treated sooner. We don’t just want to improve care but also to make it more accessible so that patients can get the specialist support they need closer to home.”

Research and clinical expertise means the UK already plays a leading role in advancing our understanding of MSMD.

Clinical and academic experts on mycobacterial infections and regulation of the immune system, including Dr Smita Patel, from Oxford, Prof Sophie Hambleton, from Newcastle, Prof Andres Floto, from Royal Papworth Hospital and the University of Cambridge, and Prof Lalita Ramakrishnan, from the University of Cambridge.

At CUH, the team will include Dr Kumararatne and Dr Rainer Doffinger, a consultant clinical scientist in immunology, who has collaborated internationally on tests to diagnose MSMD.

John Stewart, National Director for Specialised Commissioning at NHS England, said: “Rare disease collaborative networks are a vital aspect of how NHS England delivers meaningful support for the more than 3.5 million people in the UK affected by rare conditions.

“By bringing together multidisciplinary teams with outstanding knowledge and expertise in rare diseases, these networks deliver impactful research, improve care and deliver maximum benefit for patients.”